The genomic organization of a human creatine transporter (CRTR) gene located in Xq28

Genomics. 1996 Jul 15;35(2):383-5. doi: 10.1006/geno.1996.0373.


During the course of a large-scale sequencing project in Xq28, a human creatine transporter (CRTR) gene was discovered. The gene is located approximately 36 kb centromeric to ALD. The gene contains 13 exons and spans about 8.5 kb of genomic DNA. Since the creatine transporter has a prominent function in muscular physiology, it is a candidate gene for Barth syndrome and infantile cardiomyopathy mapped to Xq28.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cardiomyopathies / genetics
  • Carrier Proteins / biosynthesis
  • Carrier Proteins / genetics*
  • Centromere
  • Chromosome Mapping
  • Dinucleoside Phosphates
  • Dinucleotide Repeats
  • Exons
  • Humans
  • Introns
  • Membrane Transport Proteins*
  • Molecular Sequence Data
  • Neuromuscular Diseases / genetics
  • Oligodeoxyribonucleotides
  • TATA Box
  • X Chromosome*


  • Carrier Proteins
  • Dinucleoside Phosphates
  • Membrane Transport Proteins
  • Oligodeoxyribonucleotides
  • creatine transporter
  • cytidylyl-3'-5'-guanosine

Associated data

  • GENBANK/Z66539